Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
Release Notes Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
AVSD
MCID: ATR001
MIFTS: 56

Atrioventricular Septal Defect (AVSD)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases
Data Licensing
For inquiries, contact:
[email protected]
Genes Variations Tissues Related diseases Publications Drugs
Sources

Aliases & Classifications for Atrioventricular Septal Defect

About this section

MalaCards integrated aliases for Atrioventricular Septal Defect:

Name: Atrioventricular Septal Defect 57 11 19 58 75 28 53 5 14 31
Atrioventricular Canal Defect 57 11 58
Avsd 57 11 58
Endocardial Cushion Defect 57 11
Avcd 57 11
Ecd 57 11
Intermediate Atrioventricular Septal Defect with Atrial and Ventricular Components and Separate Atrioventricular Valvar Orifices 33
Transitional Atrioventricular Septal Defect with Atrial and Ventricular Components and Separate Atrioventricular Valves 33
Intermediate Atrioventricular Canal Defect with Atrial and Ventricular Components and Separate Atrioventricular Valve 33
Atrioventricular Septal Defect with Atrial Shunting and Restrictive Ventricular Shunting 33
Atrioventricular Canal Defect Associated with a Restrictive Ventricular Septal Defect 33
Incomplete Atrioventricular Septal Defect with Isolated Atrial Component 33
Incomplete Atrioventricular Canal Defect with Isolated Atrial Component 33
Complete Atrioventricular Canal with Atrial and Ventricular Components 33
Atrioventricular Canal Defect with Isolated Ventricular Communication 33
Partial Atrioventricular Canal Defect with Isolated Atrial Component 33
Atrioventricular Septal Defect with Isolated Ventricular Component 33
Atrioventricular Canal Defect with Isolated Ventricular Component 33
Partial Atrioventricular Septal Defect, Ostium Primum Type 33
Atrioventricular Septal Defect, Susceptibility to, 1 57
Atrioventricular Defect with Atrial Shunting Only 33
Intermediate Atrioventricular Septal Defect 33
Transitional Atrioventricular Septal Defect 33
Intermediate Atrioventricular Canal Defect 33
Transitional Atrioventricular Canal Defect 33
Complete Atrioventricular Septal Defect 33
Complete Atrioventricular Canal Defect 33
Partial Atrioventricular Septal Defect 33
Partial Atrioventricular Canal Defect 33
Ostium Primum Atrial Septal Defect 33
Atrioventricular Septal Defect 1 57
Septal Defect, Atrioventricular 38
Endocardial Cushion Defects 43
Primum Atrial Septal Defect 33
Atrial Septum Primum Defect 33
Avc Defect 57

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Cardiovascular diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0050651
OMIM® 57 606215
OMIM Phenotypic Series 57 PS606215
ICD9CM 34 745.6
MeSH 43 D004694
SNOMED-CT 68 204322008
ICD10 31 Q21.2
ICD10 via Orphanet 32 Q21.2
UMLS via Orphanet 72 C1389016 C1389018
Orphanet 58 ORPHA98722
MedGen 40 C1389018
UMLS 71 C0014116
Sources

Summaries for Atrioventricular Septal Defect

About this section

OMIM®: 57 The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). (606215) (Updated 08-Dec-2022)

MalaCards based summary: Atrioventricular Septal Defect, also known as atrioventricular canal defect, is related to congenital heart defects, multiple types, 4 and ventricular septal defect 1. An important gene associated with Atrioventricular Septal Defect is SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1), and among its related pathways/superpathways are G-AlphaQ Signaling and Human Embryonic Stem Cell Pluripotency. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and atrioventricular node, and related phenotypes are growth/size/body region and homeostasis/metabolism

Disease Ontology: 11 A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.

Wikipedia: 75 Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), also known as "common... more...
Sources

Related Diseases for Atrioventricular Septal Defect

About this section

Diseases in the Atrioventricular Septal Defect family:

Atrioventricular Septal Defect 3 Atrioventricular Septal Defect 2
Atrioventricular Septal Defect 4 Atrioventricular Septal Defect 5
Intermediate Atrioventricular Septal Defect

Diseases related to Atrioventricular Septal Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 494)
# Related Disease Score Top Affiliating Genes
1 congenital heart defects, multiple types, 4 32.9 GATA6 GATA4 CRELD1
2 ventricular septal defect 1 32.6 GATA4 AVSD1
3 right atrial isomerism 32.5 ZIC3 TBX5 TBX20 NKX2-5 GDF1 CFC1
4 ellis-van creveld syndrome 32.3 PRKACB PRKACA EVC2 EVC
5 interatrial communication 31.8 TBX5 NKX2-5
6 heart septal defect 31.8 ZIC3 TBX5 TBX20 TBX1 PRODH NKX2-5
7 conotruncal heart malformations 31.5 TBX1 NKX2-5 GDF1 GATA6
8 subvalvular aortic stenosis 31.5 TBX20 NKX2-5
9 third-degree atrioventricular block 31.4 TBX5 NKX2-5 GJA1
10 atrioventricular block 31.3 TBX5 NKX2-5 GJA1 GATA4
11 visceral heterotaxy 31.3 ZIC3 NKX2-5 GDF1 CFC1
12 ebstein anomaly 31.1 TBX5 TBX20 NKX2-5 GATA4
13 ventricular septal defect 31.0 ZIC3 TBX5 TBX20 TBX1 PRODH NKX2-5
14 tetralogy of fallot 31.0 ZIC3 TBX5 TBX20 TBX1 PRODH NKX2-5
15 orofaciodigital syndrome viii 31.0 ZIC3 TBX5 NKX2-5 GATA4 CFC1
16 atrial heart septal defect 30.9 ZIC3 TBX5 TBX20 TBX1 PRODH NKX2-5
17 aortic valve disease 2 30.9 TBX5 NKX2-5 GATA4
18 transposition of the great arteries, dextro-looped 30.8 ZIC3 TBX5 TBX20 TBX1 NKX2-5 GDF1
19 double outlet right ventricle 30.7 ZIC3 TBX5 TBX20 TBX1 NKX2-5 GJA1
20 patau syndrome 30.7 ZIC3 TBX5 TBX1 NKX2-5 GATA4 CFC1
21 pulmonary valve stenosis 30.6 ZIC3 TBX5 NKX2-5 GATA4 CFC1
22 hypertrophic cardiomyopathy 30.6 TBX5 TBX20 NKX2-5 GJA1 GATA4
23 total anomalous pulmonary venous return 1 30.5 ZIC3 TBX5 NKX2-5 GATA4 CRELD1 CFC1
24 patent ductus arteriosus 1 30.5 ZIC3 TBX5 TBX20 TBX1 PRODH NKX2-5
25 wolff-parkinson-white syndrome 30.5 TBX5 TBX20 NKX2-5
26 atrial septal defect 5 30.5 TBX5 TBX20 NKX2-5 CRELD1
27 patent foramen ovale 30.5 ZIC3 TBX5 TBX20 TBX1 NKX2-5 GATA6
28 diaphragmatic hernia, congenital 30.4 TBX5 GATA6 GATA4
29 charge syndrome 30.4 ZIC3 TBX1 PRODH
30 orthostatic intolerance 30.4 TBX5 TBX20 NKX2-5
31 cleft palate, isolated 30.4 ZIC3 TBX5 TBX1 PRODH EVC2 EVC
32 noonan syndrome 1 30.4 ZIC3 TBX5 TBX20 TBX1 NKX2-5 GATA4
33 left ventricular noncompaction 30.3 TBX5 TBX20 NKX2-5 GJA1 GATA4 CRELD1
34 tricuspid atresia 30.2 ZIC3 TBX5 TBX20 TBX1 PRODH NKX2-5
35 aortic valve disease 1 30.2 TBX5 TBX20 TBX1 NKX2-5 GATA6 GATA5
36 pulmonic stenosis 30.2 ZIC3 GATA5
37 chromosome 22q11.2 deletion syndrome, distal 30.1 ZIC3 TBX5 TBX20 TBX1 PRODH NKX2-5
38 williams-beuren syndrome 30.1 ZIC3 TBX5 TBX20 TBX1 PRODH NKX2-5
39 rasopathy 30.1 ZIC3 TBX5 TBX20 TBX1 NKX2-5 GATA4
40 holt-oram syndrome 30.1 ZIC3 TBX5 TBX20 TBX1 PRODH NKX2-5
41 hypoplastic left heart syndrome 29.9 ZIC3 TBX5 TBX20 TBX1 NKX2-5 GJA1
42 aortic aneurysm, familial thoracic 1 29.9 TBX5 TBX20 NKX2-5 GATA6 GATA5 GATA4
43 heart disease 29.8 ZIC3 TBX5 TBX20 TBX1 PRODH NKX2-5
44 complete atrioventricular canal 11.8
45 atrioventricular septal defect 4 11.8
46 atrioventricular septal defect 5 11.8
47 atrioventricular septal defect 2 11.8
48 partial atrioventricular canal 11.8
49 atrioventricular septal defect 3 11.6
50 ritscher-schinzel syndrome 1 11.6

Graphical network of the top 20 diseases related to Atrioventricular Septal Defect:



Diseases related to Atrioventricular Septal Defect
Sources

Symptoms & Phenotypes for Atrioventricular Septal Defect

About this section

Clinical features from OMIM®:

606215 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Atrioventricular Septal Defect:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.33 CFC1 EVC EVC2 GATA4 GATA6 GDF1
2 homeostasis/metabolism MP:0005376 10.32 EVC2 GATA4 GATA5 GATA6 GJA1 NKX2-5
3 nervous system MP:0003631 10.3 CRELD1 EVC2 GATA4 GDF1 GJA1 NKX2-5
4 normal MP:0002873 10.28 EVC2 GATA4 GATA6 GDF1 GJA1 NKX2-5
5 embryo MP:0005380 10.25 CFC1 CRELD1 GATA4 GATA6 GDF1 GJA1
6 limbs/digits/tail MP:0005371 10.15 EVC EVC2 GATA4 GATA6 GJA1 PRODH
7 cellular MP:0005384 10.13 CRELD1 EVC EVC2 GATA4 GATA5 GATA6
8 cardiovascular system MP:0005385 10.13 CFC1 CRELD1 EVC2 GATA4 GATA5 GATA6
9 muscle MP:0005369 10.11 GATA4 GATA5 GATA6 GJA1 NKX2-5 TBX1
10 craniofacial MP:0005382 10.02 CRELD1 EVC EVC2 GDF1 GJA1 NKX2-5
11 digestive/alimentary MP:0005381 10.01 CFC1 EVC2 GATA4 GATA5 GDF1 NKX2-5
12 skeleton MP:0005390 9.8 CFC1 EVC EVC2 GATA4 GATA5 GDF1
13 respiratory system MP:0005388 9.76 CFC1 GATA4 GATA6 GDF1 GJA1 NKX2-5
14 mortality/aging MP:0010768 9.58 CFC1 CRELD1 EVC EVC2 GATA4 GATA5
Sources

Drugs & Therapeutics for Atrioventricular Septal Defect

About this section

Drugs for Atrioventricular Septal Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
2
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
3
Enalaprilat Approved Phase 3 76420-72-9 6917719 5462501
4
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5388962 5362032
5 Plasma-lyte 148 Phase 3
6 Ophthalmic Solutions Phase 3
7 Pharmaceutical Solutions Phase 3
8 Antihypertensive Agents Phase 3
9 Angiotensin-Converting Enzyme Inhibitors Phase 3
10 HIV Protease Inhibitors Phase 3
11
protease inhibitors Phase 3
12
Dexmedetomidine Approved, Experimental, Vet_approved Phase 2 86347-14-0, 113775-47-6 68602 5311068
13
Sodium citrate Approved, Investigational Phase 2 68-04-2 23431961
14
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
15
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
16 Analgesics Phase 2
17 Adrenergic alpha-Agonists Phase 2
18 Adrenergic Agonists Phase 2
19 Adrenergic Agents Phase 2
20 Neurotransmitter Agents Phase 2
21 Calcium, Dietary Phase 2
22 Anesthetics, Intravenous Phase 2
23 Anesthetics, General Phase 2
24 Anticoagulants Phase 2
25 Anesthetics Phase 2
26 Hypnotics and Sedatives Phase 2
27 Analgesics, Opioid Phase 2
28 Analgesics, Non-Narcotic Phase 2
29 Citrate Phase 2
30 Narcotics Phase 2
31 Chelating Agents Phase 2
32 Blood Substitutes Phase 2
33 Plasma Substitutes Phase 2
34 Dextrans Phase 2
35
Calcium Nutraceutical Phase 2 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase III Double-Blind, Randomized, Placebo Controlled, Multi Center Clinical Study to Evaluate the Efficacy and Safety of Intravenous L-Citrulline for the Prevention of Clinical Sequelae of Acute Lung Injury Induced by Cardiopulmonary Bypass in Pediatric Patients Undergoing Surgery for Congenital Heart Defects Recruiting NCT05253209 Phase 3 L-citrulline;Plasmalyte A
2 Trial of ACE Inhibition in Children With Mitral Regurgitation After Repair of AVSD Terminated NCT00113698 Phase 3 Enalapril
3 Phase IB Double Blind, Randomized, Placebo Controlled Clinical Trial to Determine the Pharmacokinetics and Safety of a Revised Protocol of Intravenous L-Citrulline (Citrupress®) Versus Placebo in Children Undergoing Cardiopulmonary Bypass Completed NCT01120964 Phase 1, Phase 2 Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
4 Stress Response in Children Undergoing Cardiac Surgery: a Prospective Randomized Comparison Between Low Dose Fentanyl (LDF), Low Dose Fentanyl Plus Dexmedetomidine (LDF + Dex) and High Dose Fentanyl (HDF). Completed NCT00848393 Phase 2 Fentanyl (High Dose);Fentanyl (Low Dose);Fentanyl (Low Dose) + Dexmedetomidine
5 The Use of Hypertonic Saline Dextran in Cardiac Surgery Utilizing Cardio Pulmonary Bypass in Children Less Than 17 Weeks Old. Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
6 Phase 1 Study of the Safety and Pharmacokinetics of Perioperative IV L-carnitine Administration in Patients With Congenital Heart Disease With Increased Pulmonary Blood Flow Withdrawn NCT01825369 Phase 1 IV L-carnitine
7 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
8 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
9 Optimal Timing for Repair of Left-to-Right Shunt Lesions Terminated NCT00229827

Search NIH Clinical Center for Atrioventricular Septal Defect

Cochrane evidence based reviews: endocardial cushion defects

Sources

Genetic Tests for Atrioventricular Septal Defect

About this section

Genetic tests related to Atrioventricular Septal Defect:

# Genetic test Affiliating Genes
1 Atrioventricular Septal Defect 28
Sources

Anatomical Context for Atrioventricular Septal Defect

About this section

Organs/tissues related to Atrioventricular Septal Defect:

MalaCards : Heart, Lung, Atrioventricular Node, Cardiac Myocytes, Liver, Cerebellum, Kidney
Sources

Publications for Atrioventricular Septal Defect

About this section

Articles related to Atrioventricular Septal Defect:

(show top 50) (show all 2210)
# Title Authors PMID Year
1
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. 62 5
27058611 2016
2
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect. 62 57
25996639 2016
3
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. 62 57
23040494 2012
4
Atrioventricular septal defect: from fetus to adult. 62 57
17105897 2006
5
Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. 62 57
9002679 1997
6
Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8p. 62 57
7677156 1995
7
Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21. 62 57
8112730 1994
8
A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21. 62 57
8250042 1993
9
Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence. 62 57
1534968 1992
10
Dominant-negative ALK2 allele associates with congenital heart defects. 57
19506109 2009
11
Risk of congenital heart defects in relatives of patients with atrioventricular canal. 57
8249947 1993
12
Atrioventricular canal and 8p- syndrome. 57
8135296 1993
13
Evidence of congenital heart disease in the offspring of parents with atrioventricular defects. 57
6824534 1983
14
The recurrence risk in congenital heart disease. 57
668753 1978
15
Etiologic factors in congenital heart diseases. 57
5138391 1971
16
Familial atrial septal defect of the primum type: a report of four cases in one sibship. 57
20329145 1968
17
TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts. 53 62
15221798 2004
18
Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations. 53 62
15161646 2004
19
Detection rates of a national fetal anomaly screening programme: A national cohort study. 62
36054171 2023
20
Routine Perioperative Esmolol After Infant Tetralogy of Fallot Repair: Single-Center Retrospective Study of Hemodynamics. 62
36200768 2022
21
Current outcomes of live-born children with double outlet right ventricle in Norway. 62
36472441 2022
22
Contemporary Outcomes After Pulmonary Artery Banding in Complete Atrioventricular Septal Defect. 62
35405104 2022
23
Atrioventricular septal defect with an absent or tiny ostium primum defect: a case series of three surgical cases. 62
36258832 2022
24
Giant Partial Endocardial Cushion Defect Challenging Mitral Valve Replacement in Adults: Surgical Approach. 62
36460553 2022
25
Surgical Repair of Complete Common Atrioventricular Canal in a Conjoined Twin Following Separation. 62
35979598 2022
26
Neonatal mortality and morbidity in Down syndrome in the time of prenatal aneuploidy testing: a retrospective cohort study. 62
36350406 2022
27
Total anomalous pulmonary venous connection with another major congenital cardiac defect in biventricular hearts. 62
36437568 2022
28
Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey. 62
36326140 2022
29
Geographical and Socioeconomic Factors Influence the Birth Prevalence of Congenital Heart Disease: A Population-based Cross-sectional Study in Eastern China. 62
35921873 2022
30
Single-Stage Surgical Management of Atrioventricular Septal Defects with Coarctation of the Aorta. 62
35637360 2022
31
National outcomes of the Fontan operation with endocardial cushion defect. 62
35788993 2022
32
Surgical Outcomes of Congenital Heart Disease in Down Syndrome: Tertiary Center Experience-Focus on the Electrical Conduction System. 62
36260102 2022
33
Contemporary surgical management of complete atrioventricular septal defect with tetralogy of Fallot in Japan. 62
35332445 2022
34
Deep Learning for Improving the Effectiveness of Routine Prenatal Screening for Major Congenital Heart Diseases. 62
36362685 2022
35
High-risk genes involved in common septal defects of congenital heart disease. 62
35863714 2022
36
Rare association of absent pulmonary valve syndrome, complete atrioventricular canal defect, double outlet right ventricle, right aortic arch, and aberrant right subclavian artery in a fetal case. 62
36126337 2022
37
Extracardiac Fontan completion after the Kawashima procedure with a custom-made bifurcated graft. 62
36218125 2022
38
Impact of Reintervention During Stage 1 Palliation Hospitalization: A National, Multicenter Study. 62
36306859 2022
39
Anaesthetic management of a child with unrepaired complete atrioventricular canal defect, double outlet ventricle and pulmonary stenosis for non-cardiac surgery. 62
36425912 2022
40
Direct ventriculoatrial shunt in a pediatric patient: case report and technical note. 62
36282305 2022
41
Modified atrioventricular valve replacement in children. 62
35830724 2022
42
Minimally Invasive Surgical Repair of a Partial Atrioventricular Canal Defect in a 20-Year-Old Patient-A Case Report and Review of Literature. 62
36286304 2022
43
Repair of complete atrioventricular septal defect between 2 and 3.5 kilograms: Defining the limits of safe repair. 62
35341580 2022
44
Middle to long-term outcomes of surgical repair for atrioventricular septal defect: a single-center study. 62
36389321 2022
45
Comparison of mastery criteria applied to individual targets and stimulus sets on acquisition of tacts, intraverbals, and listener responses. 62
35811329 2022
46
Outcomes and risk analysis after tricuspid valve surgery for non-Ebstein 2-ventricle congenital tricuspid valve diseases. 62
36172453 2022
47
Predictors of increased postoperative length of stay after complete atrioventricular canal repair. 62
36168722 2022
48
Predictors of survival in paediatric mitral valve surgery: the impact of age at operation at late follow-up. 62
35325092 2022
49
Hypoplastic Left Ventricle: Definition, Morphology, and Classification of the Cardiac Phenotypes. 62
36053100 2022
50
Timing of surgical repair and resource utilisation in infants with complete atrioventricular septal defect. 62
36102879 2022
Sources

Variations for Atrioventricular Septal Defect

About this section

ClinVar genetic disease variations for Atrioventricular Septal Defect:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXP1 NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) SNV Association
 55847 rs147674680 GRCh37: 3:71019907-71019907
GRCh38: 3:70970756-70970756
2 SMARCAL1 NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter) SNV Pathogenic
 374208 rs748106387 GRCh37: 2:217280150-217280150
GRCh38: 2:216415427-216415427
3 SMARCAL1 NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) SNV Pathogenic
 4171 rs119473033 GRCh37: 2:217342939-217342939
GRCh38: 2:216478216-216478216
4 overlap with 11 genes GRCh37/hg19 16p11.2(chr16:28615644-29042118) CN GAIN Pathogenic
 997064 GRCh37: 16:28615644-29042118
GRCh38:
5 NR1D2 NM_005126.5(NR1D2):c.523C>T (p.Arg175Trp) SNV Likely Pathogenic
 690345 rs1358487339 GRCh37: 3:24003473-24003473
GRCh38: 3:23961982-23961982
6 TBX5 NM_181486.4(TBX5):c.404T>G (p.Leu135Arg) SNV Likely Pathogenic
 375289 rs1057519050 GRCh37: 12:114836484-114836484
GRCh38: 12:114398679-114398679
7 ELN NM_000501.4(ELN):c.328G>A (p.Ala110Thr) SNV Uncertain Significance
 360636 rs137953195 GRCh37: 7:73457316-73457316
GRCh38: 7:74042986-74042986
8 CHD7 NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile) SNV Uncertain Significance
 800492 rs143796440 GRCh37: 8:61765250-61765250
GRCh38: 8:60852691-60852691
Sources

Expression for Atrioventricular Septal Defect

About this section
Search GEO for disease gene expression data for Atrioventricular Septal Defect.
Sources

Pathways for Atrioventricular Septal Defect

About this section

Pathways related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
G-AlphaQ Signaling 64
Show member pathways
 12.46 PRKACB PRKACA GATA6 GATA5 GATA4
2
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12.27 TBX5 NKX2-5 GATA4 CFC1
3
Signaling by Hedgehog 66
Show member pathways
 12.23 PRKACB PRKACA EVC2 EVC
4
DREAM Repression and Dynorphin Expression 64
Show member pathways
 12.17 PRKACB PRKACA NKX2-5 GJA1 GATA6 GATA5
5
22q11.2 copy number variation syndrome 74
11.89 TBX1 PRODH NKX2-5
6
Mesodermal commitment pathway 74
11.87 ZIC3 TBX1 PRKACA GATA6
7
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 65
11.79 TBX5 NKX2-5 GJA1 GATA4
8
Mesenchymal Stem Cells and Lineage-specific Markers 65
11.6 TBX5 NKX2-5 GJA1 GATA4
9
Transcriptional Regulatory Network in Embryonic Stem Cell 64
11.37 ZIC3 GATA6 GATA4
10
Hedgehog signaling pathway 74
11.23 EVC2 PRKACA PRKACB
11
Cardiac progenitor differentiation 74
11.18 TBX5 TBX20 NKX2-5 GATA4
12
CD209 (DC-SIGN) signaling 66
10.91 PRKACB PRKACA
13
Cannabinoid receptor signaling 74
Show member pathways
 10.9 PRKACB PRKACA
14
Heart development 74
10.77 TBX5 TBX20 TBX1 NKX2-5 GATA6 GATA4
15
Rap1 signalling 66
10.76 PRKACB PRKACA
16
G-protein signaling_Rap1B regulation pathway 22
10.69 PRKACB PRKACA
17
Dopamine metabolism 74
10.65 PRKACB PRKACA
18
YAP1- and WWTR1 (TAZ)-stimulated gene expression 66
10.61 TBX5 NKX2-5 GATA4
19
ROBO receptors bind AKAP5 66
10.45 PRKACB PRKACA
20
HOP Signaling 64
10.26 NKX2-5 GATA4
Sources

GO Terms for Atrioventricular Septal Defect

About this section

Cellular components related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.53 TBX5 TBX20 TBX1 NR1D2 NKX2-5 GATA6
2 cAMP-dependent protein kinase complex GO:0005952 9.26 PRKACB PRKACA

Biological processes related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.52 GATA4 GATA5 GATA6 NKX2-5 NR1D2 TBX1
2 positive regulation of DNA-templated transcription GO:0045893 10.34 ZIC3 TBX5 TBX20 TBX1 NR1D2 NKX2-5
3 regulation of DNA-templated transcription GO:0006355 10.32 TBX5 TBX20 TBX1 NR1D2 NKX2-5 GATA6
4 cell fate commitment GO:0045165 10.13 GATA6 GATA5 GATA4
5 heart looping GO:0001947 10.11 ZIC3 TBX20 NKX2-5 GATA4
6 positive regulation of BMP signaling pathway GO:0030513 10.08 TBX20 GATA6 GATA4
7 cell fate specification GO:0001708 10.05 TBX5 TBX20 TBX1
8 positive regulation of cardiac muscle cell proliferation GO:0060045 10.03 TBX5 TBX20 GATA6
9 pattern specification process GO:0007389 10.02 TBX1 TBX5 ZIC3
10 cardiac muscle cell proliferation GO:0060038 10.02 TBX5 NKX2-5 GATA6
11 aortic valve morphogenesis GO:0003180 10.01 GATA4 GATA5 NKX2-5 TBX20
12 atrioventricular canal development GO:0036302 9.97 TBX20 GATA6 GATA4
13 regulation of protein processing GO:0070613 9.95 PRKACB PRKACA
14 intestinal epithelial cell differentiation GO:0060575 9.95 GATA6 GATA5 GATA4
15 sinoatrial node development GO:0003163 9.94 TBX5 GATA6
16 outer ear morphogenesis GO:0042473 9.93 ZIC3 TBX1
17 outflow tract morphogenesis GO:0003151 9.93 TBX20 TBX1 NKX2-5
18 endocardial cushion development GO:0003197 9.93 CRELD1 GATA4 TBX5
19 outflow tract septum morphogenesis GO:0003148 9.92 TBX20 TBX1 NKX2-5 GATA6
20 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:1901621 9.91 PRKACB PRKACA
21 bundle of His development GO:0003166 9.9 NKX2-5 TBX5
22 atrial cardiac muscle tissue development GO:0003228 9.89 NKX2-5 ZIC3
23 atrioventricular node cell development GO:0060928 9.88 NKX2-5 TBX5
24 atrioventricular node development GO:0003162 9.85 NKX2-5 GATA6 GATA4
25 atrioventricular node cell fate commitment GO:0060929 9.84 NKX2-5 TBX5
26 cardiac muscle tissue development GO:0048738 9.83 GATA5 GATA6 NKX2-5
27 cardiac ventricle morphogenesis GO:0003208 9.82 NKX2-5 GATA4
28 atrial septum morphogenesis GO:0060413 9.76 GATA4 NKX2-5 TBX20 TBX5
29 cardiac muscle cell differentiation GO:0055007 9.73 TBX5 NKX2-5 GATA6 GATA4
30 heart development GO:0007507 9.7 ZIC3 TBX5 TBX1 NKX2-5 GJA1 GATA5
31 positive regulation of cardioblast differentiation GO:0051891 9.23 TBX5 NKX2-5 GATA6 GATA4

Molecular functions related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.36 GATA4 GATA5 GATA6 NKX2-5 NR1D2 TBX1
2 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 10.32 ZIC3 TBX5 TBX20 TBX1 NR1D2 NKX2-5
3 sequence-specific double-stranded DNA binding GO:1990837 10.06 ZIC3 TBX20 TBX1 NR1D2 NKX2-5 GATA6
4 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.97 GATA4 GATA6 NKX2-5 TBX20 TBX5
5 DNA-binding transcription factor activity GO:0003700 9.86 GATA4 GATA5 GATA6 NKX2-5 NR1D2 TBX1
6 AMP-activated protein kinase activity GO:0004679 9.78 PRKACB PRKACA
7 cAMP-dependent protein kinase activity GO:0004691 9.76 PRKACB PRKACA
8 NFAT protein binding GO:0051525 9.73 GATA6 GATA4
9 cis-regulatory region sequence-specific DNA binding GO:0000987 9.56 NR1D2 GATA6 GATA5 GATA4
10 sequence-specific DNA binding GO:0043565 9.44 ZIC3 TBX5 TBX1 NR1D2 NKX2-5 GATA6
Sources

Sources for Atrioventricular Septal Defect

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....